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Variant : CV653443 (NC_000023.10:g.(?_32404417)_(32717420_?)dup) Homo sapiens

Symbol: CV653443
Name: NC_000023.10:g.(?_32404417)_(32717420_?)dup
Condition: Duchenne muscular dystrophy [RCV000817939]
Clinical Significance: pathogenic
Last Evaluated: 08/29/2018
Review Status: criteria provided, single submitter
Related Genes: DMD   MIR3915   MIR548F5  
Variant Type: duplication (SO:1000035)
Evidence: clinical testing
HGVS Name(s): NC_000023.10:g.(?_32404417)_(32717420_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38X32,386,300 - 32,699,303CLINVAR
GRCh37X32,404,417 - 32,717,420CLINVAR
Cytogenetic MapXXp21.1CLINVAR

Disease Annotations
References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 14701623
Created: 2019-09-06
Species: Homo sapiens
Last Modified: 2020-03-17
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.